Clinical utility gene card for: CHARGE syndrome - update 2015
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Publisher
Springer Science and Business Media LLC
Link
http://www.nature.com/articles/ejhg201515.pdf
Reference20 articles.
1. Janssen N, Bergman JE, Swertz MA et al: Mutation update on the CHD7 gene involved in CHARGE syndrome. Hum Mutat 2012; 33: 1149–1160.
2. Vissers LE, van Ravenswaaij CMA, Admiraal R et al: Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 2004; 36: 955–957.
3. Bergman JEH, de Wijs I, Hoefsloot LH, Jongmans MCJ, van Ravenswaaij CMA : Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE syndrome. Eur J Med Genet 2008; 51: 417–425.
4. Bergman JEH, Janssen N, Jongmans M, Hoefsloot LH, van Ravenswaaij-Arts CMA : CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. J Med Genet 2011; 48: 334–342.
5. Wincent J, Schulze A, Schoumans J : Detection of CHD7 deletions by MLPA in CHARGE syndrome patients with a less typical phenotype. Eur J Med Genet 2009; 52: 271–272.
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